Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature
Michał Sobstyl; Nina Kożuch; Magdalena Iwaniuk-Gugała; Angelika Stapińska-Syniec; Magdalena Konopko; Paweł Jezierski · 2023 · Epilepsy & Behavior Reports
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Abstract
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4
Abstract by Michał Sobstyl; Nina Kożuch; Magdalena Iwaniuk-Gugała; Angelika Stapińska-Syniec; Magdalena Konopko; Paweł Jezierski, Epilepsy & Behavior Reports (2023) — licensed CC BY 4.0.
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Metadata source: DOAJ · DOI 10.1016/j.ebr.2023.100627